A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521705



Internal ID297990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75426810..75427234hg38UCSC Ensembl
chr18:73138765..73139189hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719537
Samples
Known GenesSMIM21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521705
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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